ASSOCIATED MALFORMATIONS IN THE FAMILY OF A PATIENT WITH MECKEL-SYNDROME - HETEROZYGOUS EXPRESSION

Meckel syndrome is an inherited autosomal recessive disease. A family is described in which four persons had minor malformations related to the syndrome, suggesting the possibility of manifesting heterozygotes. It is uncertain whether these malformations represent partial express ion of the disease or are coincidental. However, partial expression ha s been described in heterozygotes for other autosomal recessive diseas es. Until the gene responsible for this lethal syndrome is cloned and sequenced, such relatives of the proband may be offered genetic counse lling and prenatal diagnosis.